ClinVar for Gene (Select 84258) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324044	NM_001160329.2(SYT3):c.574G>C (p.Gly192Arg)	SYT3 (G192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324043	NM_001160329.2(SYT3):c.631G>C (p.Ala211Pro)	SYT3 (A211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324042	NM_001160329.2(SYT3):c.649G>T (p.Val217Phe)	SYT3 (V217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324041	NM_001160329.2(SYT3):c.439G>A (p.Glu147Lys)	SYT3 (E147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324040	NM_001160329.2(SYT3):c.1636G>A (p.Gly546Ser)	SYT3 (G546S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324039	NM_001160329.2(SYT3):c.58C>T (p.Leu20Phe)	SYT3 (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173015	NM_001160329.2(SYT3):c.995A>G (p.Asn332Ser)	SYT3 (N332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173014	NM_001160329.2(SYT3):c.949G>A (p.Val317Met)	SYT3 (V317M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173013	NM_001160329.2(SYT3):c.745C>T (p.Arg249Trp)	SYT3 (R249W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173011	NM_001160329.2(SYT3):c.599T>A (p.Leu200Gln)	SYT3 (L200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173010	NM_001160329.2(SYT3):c.575G>A (p.Gly192Glu)	SYT3 (G192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173009	NM_001160329.2(SYT3):c.574G>T (p.Gly192Trp)	SYT3 (G192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173008	NM_001160329.2(SYT3):c.443C>T (p.Pro148Leu)	SYT3 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173007	NM_001160329.2(SYT3):c.263G>C (p.Gly88Ala)	SYT3 (G88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173006	NM_001160329.2(SYT3):c.250C>T (p.Arg84Trp)	SYT3 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173005	NM_001160329.2(SYT3):c.122G>A (p.Arg41Gln)	SYT3 (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650353	NM_001160329.2(SYT3):c.1353C>T (p.Thr451=)	SYT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610744	NM_001160329.2(SYT3):c.1250C>T (p.Pro417Leu)	SYT3 (P417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599405	NM_001160329.2(SYT3):c.1768G>A (p.Glu590Lys)	SYT3 (E590K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554105	NM_001160329.2(SYT3):c.105G>C (p.Glu35Asp)	SYT3 (E35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553957	NM_001160329.2(SYT3):c.664C>A (p.Pro222Thr)	SYT3 (P222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526599	NM_001160329.2(SYT3):c.1195G>A (p.Gly399Ser)	SYT3 (G399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520414	NM_001160329.2(SYT3):c.1267G>A (p.Val423Met)	SYT3 (V423M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507757	NM_001160329.2(SYT3):c.32G>A (p.Arg11Gln)	SYT3 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482030	NM_001160329.2(SYT3):c.22G>A (p.Asp8Asn)	SYT3 (D8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478907	NM_001160329.2(SYT3):c.88A>C (p.Asn30His)	SYT3 (N30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473397	NM_001160329.2(SYT3):c.1555G>T (p.Ala519Ser)	SYT3 (A519S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465305	NM_001160329.2(SYT3):c.730C>T (p.Pro244Ser)	SYT3 (P244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410116	NM_001160329.2(SYT3):c.334G>A (p.Gly112Arg)	SYT3 (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398694	NM_001160329.2(SYT3):c.385G>A (p.Gly129Ser)	SYT3 (G129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386598	NM_001160329.2(SYT3):c.220G>A (p.Val74Met)	SYT3 (V74M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379524	NM_001160329.2(SYT3):c.529G>A (p.Ala177Thr)	SYT3 (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377015	NM_001160329.2(SYT3):c.263G>T (p.Gly88Val)	SYT3 (G88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376639	NM_001195076.2(C19orf81):c.112C>T (p.Arg38Trp)	C19orf81, SYT3 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374592	NM_001195076.2(C19orf81):c.338G>C (p.Arg113Pro)	C19orf81, SYT3 (R113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312316	NM_001160329.2(SYT3):c.689C>T (p.Pro230Leu)	SYT3 (P230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261139	NM_001160329.2(SYT3):c.272T>C (p.Val91Ala)	SYT3 (V91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227427	NM_001160329.2(SYT3):c.1663G>A (p.Ala555Thr)	SYT3 (A555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208689	NM_001160329.2(SYT3):c.862G>A (p.Gly288Ser)	SYT3 (G288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207663	NM_001160329.2(SYT3):c.289C>T (p.Arg97Cys)	SYT3 (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205845	NM_001160329.2(SYT3):c.746G>A (p.Arg249Gln)	SYT3 (R249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808756	GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3	ACP4, ASPDH +13 more	Copy number gain	not provided	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 775421	NM_001160329.2(SYT3):c.1063-9C>G	SYT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716481	NM_001160329.2(SYT3):c.676T>C (p.Tyr226His)	SYT3 (Y226H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60